ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.275T>C (p.Leu92Pro)

dbSNP: rs2089497300
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV001291036 SCV005088953 likely pathogenic Mucopolysaccharidosis, MPS-II 2024-06-07 criteria provided, single submitter literature only Absent from controls (or at low frequency) in gnomAD database (PM2_Moderate), Missense variant in a gene with a low rate of benign missense variation (PP2_Supporting), Multiple lines of computational evidence support a deleterious effect (PP3_Supporting), Patient’s phenotype or family history highly specific for the disease (PP4_Strong)
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences RCV001291036 SCV001479337 likely pathogenic Mucopolysaccharidosis, MPS-II criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.